COVID-19 research
Gene: TIRAP
Incomplete penetranceCreated: 11 Jun 2018, 12:40 p.m.
Publications
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TIRAP .PanelApp HGNC gene symbol check: TIRAP . IUIS Disease: TIRAP deficiency . IUIS Inheritance: AR .T cells: N/A, .B cells: N/A, .IUIS Other affected cells: Lymphocytes + Granulocytes+ Monocytes. IUIS Associated features: Staphylococcal disease during childhood. IUIS Major category: Defects in Intrinsic and Innate Immunity. IUIS Subcategory: TLR Signaling Pathway Deficiency with Bacterial SusceptibilityCreated: 2 Jul 2018, 10:35 a.m.
External expert review notes Red status and Incomplete penetrance , so I have kept this gene Red on this panel until further evidenceCreated: 13 Jun 2018, 10:14 a.m.
Comment on publications: Added publications suggested from external expert reviewCreated: 13 Jun 2018, 10:14 a.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: TIRAP, PanelApp HGNC gene symbol check: TIRAP, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Defects in innate immunity / Defects of TLR/NFkappa-B signalling / Defects of TLR/NFkappa-B signallingCreated: 17 Apr 2018, 12:29 p.m.
Source Expert Review Green was added to TIRAP. Added phenotypes Staphylococcal disease during childhood; Defects of TLR/NFkappa-B signalling; TIRAP deficiency; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity for gene: TIRAP Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: TIRAP was added gene: TIRAP was added to Viral susceptibility. Sources: Expert Review Red,ESID Registry 20171117,IUIS Classification February 2018,IUIS Classification December 2019 Mode of inheritance for gene: TIRAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TIRAP were set to 32086639; 32048120; 28235196 Phenotypes for gene: TIRAP were set to Staphylococcal disease during childhood; Defects of TLR/NFkappa-B signalling; TIRAP deficiency; Defects in intrinsic and innate immunity; Defects in Intrinsic and Innate Immunity